Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.K50*
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ACTB

NM_001101.5:p.K50*

Associated Papers

Somatic alterations in the melanoma genome: a high-resolution array-based comparative genomic hybridization study.

Gast A et al.

Genes, Chromosomes & Cancer, 2010

Methylation of the p16INK4A promoter is associated with malignant behavior in abdominal extra-adrenal paragangliomas but not pheochromocytomas.

Kiss NB et al.

Endocrine-related Cancer, 2008

Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

Mandey SH et al.

Human Mutation, 2006

CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.

Della Torre G et al.

British Journal of Cancer, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."